METHODS: A clinical and motor evaluation, respiratory muscle function testing, and polysomnography were performed repeatedly.
RESULTS: Fifteen spinal muscular atrophy patients (1 presymptomatic, 7 type 1b, 6 type 1c, and 1 type 2) were included at a median age of 8.6 months (range 3.8-12.6) and followed for 24 months. The thoracic over head circumference ratio was close to normal at baseline (median 1.00 (range 0.90-1.05)) and increased significantly over time. All polysomnography and nocturnal gas exchange parameters were within normal ranges at baseline (median apnea-hypopnea index 2.5 events/hour (range 0.4-5.3)) and follow-up. The inspiratory muscle strength was normal at baseline but tended to slightly decrease over time and the expiratory muscle strength was low at any time especially for patients with recurrent respiratory infections (median (range) at baseline in cmH2O: crying esophageal pressure 54 (30-110), crying transdiaphragmatic pressure 65 (35-107), gastric pressure during maximal cough 26 (10-130), esophageal pressure during maximal cough 61 (38-150)). Only 3 patients required noninvasive ventilation.
CONCLUSIONS: A continuous respiratory monitoring of spinal muscular atrophy patients during the first years of life following onasemnogene abeparvovec monotherapy seems recommended despite the normality of polysomnography parameters.
方法:临床和运动评估,呼吸肌功能测试,重复进行多导睡眠图。
结果:15例脊髓性肌萎缩症患者(1例症状前,71b型,61c型,和1型2)在中位年龄8.6个月(范围3.8-12.6)时被纳入,并随访24个月。胸廓头围比在基线时接近正常(中位数1.00(范围0.90-1.05)),并且随着时间的推移显着增加。在基线(中位呼吸暂停低通气指数2.5事件/小时(范围0.4-5.3))和随访时,所有多导睡眠图和夜间气体交换参数均在正常范围内。吸气肌力在基线时正常,但随着时间的推移有轻微下降的趋势,呼气肌力在任何时候都很低,特别是对于反复呼吸道感染的患者(基线时的中位数(范围),单位为cmH2O:哭泣食管压力54(30-110),哭跨膈压力65(35-107),最大咳嗽期间的胃压26(10-130),最大咳嗽期间的食管压力61(38-150))。只有3例患者需要无创通气。
结论:尽管多导睡眠图参数正常,但似乎仍建议对脊髓性肌萎缩患者在单药治疗后的头几年进行持续呼吸监测。